(Q36580250)

15 August 2017

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications (English)

1 reference

Andrew Oliver Mungo Wilkie

15 August 2017

7

1 reference

15 August 2017

9

1 reference

15 August 2017

5

Stephen R F Twigg

1 reference

15 August 2017

Zamin Iqbal

4

0 references

Hang Phan

object named as

Hang Phan

2

0 references

author name string

Andy Rimmer

1

1 reference

15 August 2017

Iain Mathieson

3

1 reference

15 August 2017

WGS500 Consortium

6

1 reference

15 August 2017

Gil McVean

8

1 reference

15 August 2017

language of work or name

English

0 references

publication date

13 July 2014

1 reference

15 August 2017

1 reference

15 August 2017

46

1 reference

15 August 2017

8

1 reference

15 August 2017

912-918

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3036

15 August 2017

0 references

cites work

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

An integrated map of genetic variation from 1,092 human genomes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Rate of de novo mutations and the importance of father's age to disease risk

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Primer3--new capabilities and interfaces

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Transient hypermutability, chromothripsis and replication-based mechanisms in the generation of concurrent clustered mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Variation in genome-wide mutation rates within and between human families

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

A framework for variation discovery and genotyping using next-generation DNA sequencing data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

A multi-site study using high-resolution HLA genotyping by next generation sequencing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Dindel: accurate indel calls from short-read data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Efficient construction of an assembly string graph using the FM-index

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Characterization of missing human genome sequences and copy-number polymorphic insertions

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Fast and accurate short read alignment with Burrows-Wheeler transform

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

SNP detection for massively parallel whole-genome resequencing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Mapping short DNA sequencing reads and calling variants using mapping quality scores

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Velvet: algorithms for de novo short read assembly using de Bruijn graphs

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

SOAP: short oligonucleotide alignment program

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

A statistical method for predicting classical HLA alleles from SNP data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Diploid genome reconstruction of Ciona intestinalis and comparative analysis with Ciona savignyi

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

High-throughput DNA typing of HLA-A, -B, -C, and -DRB1 loci by a PCR-SSOP-Luminex method in the Japanese population.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

An Eulerian path approach to DNA fragment assembly

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Toward simplifying and accurately formulating fragment assembly

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

De novo assembly and genotyping of variants using colored de Bruijn graphs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Enhancements and modifications of primer design program Primer3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Assembly of polymorphic genomes: algorithms and application to Ciona savignyi

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Uncertainty in homology inferences: assessing and improving genomic sequence alignment

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4753679

Evidence for a High Frequency of Simultaneous Double-Nucleotide Substitutions

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25017105

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3036

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

25017105

1 reference